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Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report

16 Jul 2024

Abstract excerpt

Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we present a case report of a non-consanguineous family. In our case, the first-trimester ultrasound was negative, and the presence of the affected mother was not enough...

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PMID: 39062310
DOI: 10.3390/children11070861

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